Comprehensive Epilepsy Program, University of Alberta Hospital, Edmonton, Alberta, Canada.
Pediatr Neurol. 2011 May;44(5):328-32. doi: 10.1016/j.pediatrneurol.2011.01.001.
Tuberous sclerosis complex is an autosomal-dominant genetic disorder characterized by hamartomatous growth in various organs. Patients who have this disorder exhibit a high rate of epilepsy and cognitive problems. We investigated number of tubers, location, seizure types, and cognitive outcome, and we analyzed the relationships among them in our tuberous sclerosis patients in the Comprehensive Epilepsy Program at the University of Alberta. We also examined the seizure outcome after tuber resection. Our study cohort included 24 patients with tuberous sclerosis complex. We obtained seizure history, electroencephalogram, and neuropsychologic parameters. Magnetic resonance imaging was used to examine tuber numbers and locations. Ten patients underwent surgical removal of tubers responsible for intractable epilepsy. A negative correlation was found between the number of tubers and intelligent quotient score. Epilepsy surgery led to freedom from seizures in this patient group. We demonstrated that the total number and location of cortical tubers play a significant role in the extent of mental retardation in patients with tuberous sclerosis complex. In addition, patients with intractable seizures and well-defined epileptic focus had excellent surgical outcome.
结节性硬化症是一种常染色体显性遗传疾病，其特征是各种器官出现错构瘤生长。患有这种疾病的患者癫痫发作和认知问题的发生率很高。我们在艾伯塔大学综合癫痫项目中调查了结节性硬化症患者的结节数量、位置、癫痫发作类型和认知结果，并分析了它们之间的关系。我们还检查了结节切除术后的癫痫发作结果。我们的研究队列包括 24 名结节性硬化症患者。我们获得了癫痫发作史、脑电图和神经心理学参数。磁共振成像用于检查结节的数量和位置。10 名患者因难治性癫痫接受了结节切除术。我们发现结节数量与智商评分呈负相关。癫痫手术使该患者组无癫痫发作。我们证明，结节性硬化症患者皮质结节的总数和位置对智力迟钝的程度有重要影响。此外，有难治性癫痫发作和明确癫痫灶的患者手术效果极佳。
